The GCNT2 gene homepage

This database is one of the "Eye disease" gene variant databases.
General information
Gene symbol GCNT2
Gene name glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)
Chromosome 6
Chromosomal band p24.2
Imprinted Unknown
Genomic reference NG_007469.2
Transcript reference NM_001491.2, NM_145649.4, NM_145655.3
Exon/intron information NM_145649.4 exon/intron table
Associated with diseases CTRCT13, Ii
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Johan den Dunnen
Total number of public variants reported 81
Unique public DNA variants reported 40
Individuals with public variants 190
Hidden variants 6
Notes This database is one of the "Eye disease" gene variant databases.
Date created March 01, 2010
Date last updated December 29, 2023
Version GCNT2:231229

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_145649.4.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL http://www.LOVD.nl/GCNT2
HGNC 4204
Entrez Gene 2651
PubMed articles GCNT2
OMIM - Gene 600429
OMIM - Diseases CTRCT13 (cataract, type 13, with adult phenotype (CTRCT-13))
Ii (blood group antigen i (BG-i))
HGMD GCNT2
GeneCards GCNT2
GeneTests GCNT2
Orphanet GCNT2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00008417 6 transcript variant 1 NM_145649.4 NP_663624.1 79
00023844 6 transcript variant 3 NM_145655.3 NP_663630.2 68
00023843 6 transcript variant 2 NM_001491.2 NP_001482.1 67


Copyright & disclaimer
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We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), curator(s), or any of their employees or agents for the effects of any product, process, or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.